Gorham-Stout disease of the craniovertebral junction presenting with bow hunter syndrome and cerebellar infarction treated by occipitocervical fusion: illustrative case

BACKGROUND: Gorham-Stout disease (GSD) is an extremely rare osteolytic disorder characterized by progressive bone resorption associated with nonneoplastic vascular or lymphatic proliferation. Craniovertebral junction involvement is particularly uncommon and may cause life-threatening instability or neurological compromise. To the authors' knowledge, bow hunter syndrome caused by craniovertebral GSD has not been reported. OBSERVATIONS: A 71-year-old woman presented with dizziness and inability to stand. Brain MRI and MR angiography demonstrated a left cerebellar infarction and left vertebral artery occlusion. CT and MRI showed extensive C1-3 osteolysis and cranial settling of the osteolytic C2 vertebral body. CT angiography in the neutral head position demonstrated vertebral artery recanalization, suggesting dynamic occlusion consistent with bow hunter syndrome. Additional osteolytic lesions in the L1 vertebral body, left seventh rib, and phalanges suggested GSD. After halo vest immobilization, occipitocervical (O-C7) fusion was performed using an autologous fibular strut graft, with angiographic confirmation of vertebral artery patency. Histopathological analysis confirmed GSD. No progression of the C1-3 osteolytic lesions was observed during 4 years of follow-up. LESSONS: Craniovertebral GSD can cause bow hunter syndrome and cerebellar infarction. Angiographic confirmation of vertebral artery patency, rigid fixation, and a fibular graft potentially resistant to osteolysis may be important for stabilization. https://thejns.org/doi/10.3171/CASE26576.